A novel G-to-A mutation in intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency

Haematologica

Volumn 88, Issue 4, 2003, Pages 459-464

  D'Andrea, Giovanna ^a   Di Perna, Pasquale ^a   Brancaccio, Vincenzo ^b   Faioni, Elena M ^c   Castaman, Giancarlo ^d   Cibelli, Giuseppe ^g   Di Minno, Giovanni ^e   Margaglione, Maurizio ^a,f  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b CARDARELLI HOSPITAL   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d SAN BORTOLO HOSPITAL   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f UNIVERSITY OF FOGGIA   (Italy)

^g NONE

Author keywords

Gene; Mutation; Protein S; Splicing

Indexed keywords

MESSENGER RNA; PROTEIN S; RNA;

ADULT; AMINO ACID SEQUENCE; ANTIGEN DETECTION; ARTICLE; AUTOSOMAL DISORDER; BLOOD CLOTTING DISORDER; CASE REPORT; DEEP VEIN THROMBOSIS; EXON; FAMILY HISTORY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HETEROZYGOTE; HUMAN; IN VITRO STUDY; INTRON; MALE; OPEN READING FRAME; PROTEIN S DEFICIENCY; RNA PROCESSING; RNA SPLICING; SEQUENCE ANALYSIS; STOP CODON; THROMBOPHILIA; WILD TYPE;

ADULT; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; INTRONS; MALE; POINT MUTATION; PROTEIN S; PROTEIN S DEFICIENCY; RNA SPLICING;

EID: 0038414636     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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